It's All in the Family (Except When it's Not)

Swimming, baseball, ice cream, fireworks, hot days and cold tea, visits with friends: these are some of the beautiful things about summer. Our busy summer has been filled with more than the usual amount of goodness; the support of family and friends and good news from so many sources. Our family was blessed to welcome the birth of another nephew, Logan Alexander Rogers, born to my sister Katie and her husband Bryan on May 31 (just 2 days after my birthday, which means that I can gift my birthday to him and I never have to age again…right?). Logan has a handsome, five year old big brother named Caden who is ALD negative. My mother, sisters, and new nephew will be DNA tested soon. We especially pray that the new baby boy is ALD negative.

Summer is my favorite time of year and we've been quite busy. I accepted a full time position as an EMT, a career that I am over-joyed to be in. Cutler and the kids participated in a very helpful family and friends CPR class. Everyone should know CPR! We took a day trip to the beach where Cai was the first to spot FOUR baby sea turtles.  Gabe even got to have a pool party birthday do-over and camp out on the Duham Bulls baseball field with the Boy Scouts!

After Cutler's first MRI since his brain cancer diagnosis in May, his neurologist said that the tumor doesn't appear to be growing. It hasn’t shrunk, either, but it’s still early in his treatment, so that is to be expected. He’s still having seizures, but that also is to be expected. He's in a catch-22 with those: tumor growth causes them, tumor death causes them, and having a tumor hang out in your brain causes them. All in all, his news is good news! We've had some trouble with getting his chemo to him on-time without him missing doses. Since he administers it himself, he has to reorder it through his doctor. For two months in a row, there have been communication issues between the pharmacy, the doctor's office, and the shipping pharmaceutical company, so his dose has been late. Last month, he missed a week but this month he only missed a day. We hope that since it's early in treatment, it won't make a major difference.

Gabe’s endocrinologist, Dr. Hart-Unger, is leaving and his next appointment in August will be with a new doctor. I’m sad to see her go and I hope that the new endocrinologist is as wonderful, personable, and accessible as Dr. Hart-Unger has been. Her final act for Gabe was to start him on Fludrocortisone because his body has begun to salt-waste. This is something that is typical in Adrenal Insufficiency, but she said that it happened a little faster than she expected.

We have been learning about the challenges that come with the Addison’s Disease component of ALD in the summer time. Apparently, Gabe is more susceptible to the heat and dehydration, needs to increase his sodium, may need to stress dose on very hot days. Sports drinks are good for sodium, but bad in that they have too much potassium - too much K could lead to hyperkalemia. We’re learning, but we’re not ready yet to send Gabe off to camp or to be baby-sat for extended periods of time.  I think he’s a little disappointed that he has these kinds of restrictions, but I think he seems to understand. He's a smart boy and he's been proactive about his health lately. We’re trying to make it up to him by doing fun things together.

We met with Gabe’s geneticist and she explained the genetic factors of ALD, the importance of getting my relatives tested (starting with my mother and sisters, then biological aunts and cousins, etc). She told us that it is not yet known what modifying genes are at work in ALD and that this may explain why some boys are severely affected while others less so.  Gabe’s mutation is new to the database and it’s predicted to be severe based on a computer model and since this is a new mutation, the computer doesn't know if it's like replacing the eggs and oil in a cake recipe with mayo (which is oil and eggs and won't ruin the cake) or with asparagus. She had the same opinion as the bone marrow team about Lorenzo’s Oil and diet: that there is no dietary therapy for ALD, LO is not proven to be effective, and that Gabe needs to be on a low-fat, heart-healthy diet. 

It took quite some time to hear the results of our daughter, Cai’s, DNA test and HLA typing results, but the verdict is in: Not only does Cai NOT have the mutation for ALD, she is also Gabe’s bone marrow match! This is the best possible news! This means, for her, that she will never pass this terrible disease to her children and she will never have to worry about developing carrier symptoms or AMN (Adrenomyeloneuropathy, a more mild form of ALD that affects the spine, peripheral nerves, bladder, and bowel). For Gabe it means that if he does begin to develop cerebral involvement, he can have a bone marrow transplant quickly without having to search the donor database for a match. We feel so incredibly blessed and fortunate that Cai is Gabe’s match; we’ve heard from other parents of boys with ALD who are not so fortunate as to have a match for their sons and my heart goes out to them.

My own DNA test results came back very quickly. I had the test done just before the 4^th of July holiday, so I expected to have additional delays beyond the month that it usually takes to get results. I had them back in about two weeks.  I DO have the ALD mutation. This means that I passed the gene to Gabe via a damaged (mutated) X chromosome.  To be honest, I haven’t quite worked out how I feel about this. I guess there is an upside: I get mad street cred in the geek circle as a bonafide, certified mutant. Plus, shouldn’t my super powers be manifesting soon? Do I need to stick a fork in a light socket or something to activate them? Go skydiving? Turn 33? Gabe is pulling for me to turn out to be Mystique because that would make him Nightcrawler. 

I tend  to make light of things and laugh at them because laughter lessens the power of the monster (think: Bogarts), but I had other, darker, reactions, too. I didn’t so much move through Kubler-Ross’s stages of grief as I did experience them all at the same time for the first couple of days after my results.  My personal psychology is firmly rooted in both Buddhism and Catholicism (observation and non-attachment to what arises, gratefulness, silence, and prayer), so I tend to observe my emotions and try to understand them.  This is what  I observed arising in myself with my carrier status confirmation:

I have been having carrier symptoms without knowing that’s what they were for more than eight years. I’d always said that there had to be something linking these things together; one root cause that we hadn’t figured out yet. I’ve gone through numerous tests and the most likely culprit that they kept coming back to was an autoimmune disease but, though many of the symptoms fit, my MRIs looked good and my blood work kept coming back negative for autoimmune. When Gabe was diagnosed and I began to understand the symptoms that about half of all carriers have (AMN-like symptoms), I realized that ALD was the missing link and my symptoms made sense for a symptomatic carrier. It was the logical conclusion even before DNA confirmation. So, I was surprised that I felt any sense of surprise at all when my results came back confirming what I already knew. But I still thought “Really? Really? Darn it!”

With that came the guilt of having passed this on to my son. A lot of carrier mothers feel this way and I know that it’s not rational. It’s no one’s fault: it just is what it is. I didn’t know I was a carrier and I didn’t know that Gabriel had it for ten years.  I would never have consciously given my son a terrible genetic disease that could debilitate or kill him. Still, part of me feels like it’s my fault that he has to suffer.  I’m also dealing with a little bit of fear over what this can do to me – not just the potential loss of my son, but the physical and mental affects that being a carrier can have on me, personally. My nerve pain, numbness, ADHD, and bladder problems are just annoyances right now, but I don’t want them to become real problems one day. I see how difficult day-to-day is for my mom and I’m worried that, since her symptom sets looks a lot like carrier-AMN, I could be headed down that same physical path. I am in a career that I absolutely love and I am afraid of the possibility of one day not being able to do my job.  I know that fear is not something to cling to; you can’t live life worrying about something that may never happen. The best thing for me to do is to acknowledge my fear when it arises and let it go, doing what I can, and what’s reasonable, to stay fit and healthy.

This will come as no surprise to anyone who knows me: I have something of a white knight complex. I’d love to eradicate suffering (yeah, yeah… I know. Samsara is Nirvana, grit makes the pearl, our crosses to bear, and all that). Since I can’t cure Gabe, and maybe even as some kind of personal purging of sins (real or perceived), I want to save the world and make sure that Gabe and anyone else who has ALD, or is a carrier, gets the treatment that they need. In the big picture, this means that I want to get newborn screening for ALD and EMS protocols for adrenal insufficiency instituted in my state. In the smaller picture, I want to get all of my relatives DNA tested. The latter seems like it may be a bigger task than the former.

Not everyone I talked to about DNA testing immediately understood the importance of screening and not everyone has the means to do it right now (healthcare costs are out of reach for many people today!). Enter anger. I am off-and-on angry when I run up against a roadblock to healthcare, since access to healthcare is my personal crusade, be that the reluctance to get tested/treated or other barriers (lack of insurance, doctors with big egos who don’t want to question their potential misdiagnosis, etc). By and large, most people I’ve talked to are open to the idea of being tested, but I find myself getting angry at the few who are reluctant to find out if they or their children have the mutation because it’s needlessly reckless. I understand that it’s a coping mechanism, but it’s frustrating when everyone isn’t rushing to get tested. Early detection equals a better chance for survival and treatment. Or, in cases of misdiagnosis, proper treatment.

So, what have we got here? We have somewhat irrational anger and guilt together with fear all driving the white knight desire to save everyone from ALD: A nice boiling pot. Then someone made a really hateful comment: they said that a family member didn't need to get tested because me and my husband's "bad blood" had nothing to do with them (what kind of person even says that?!). At the phrase “bad blood,” I flew into an absolute rage for about an hour. Now my version of rage and yours might be two different things.  It’s not like I scream (often) or throw things, but I do vent and do what I can to take corrective measures (like sending strongly worded emails). But seriously? I really wanted to punch that someone in the face.  After my hour or so of rage was up and I got myself under control, I sat in prayer and meditation with the family. Better late than never. Let me tell you, this family time is a great practice! We start with everyone taking turns saying offering up gratitude and general prayers, then we move into chanting and meditation. My husband, Cutler, prefers to use the singing bowl and Buddhist chants. I go with praying the rosary aloud.  It sounds quite beautiful once you get everyone chanting/ praying together. Afterward, I felt a million times better and, once calm, I understood that the nasty comments that the other person had made were coming from a place of their own fear, ego, and power issues and that my response of anger was due to mine.

But the main thing, the real take-away is this: that was just one instance of someone being hateful and it was far, far outweighed by the scores of friends, family, even strangers who have been kind and supportive. Once in a while, people can be destructive, mean, divisive, or worse. But these people are small in numbers. They are overwhelmed by the multitudes of people who are constructive, kind, compassionate, uniting, uplifting, and helpful. We see this every day enacted and reenacted in the world. Our family has been blessed again and again by the helpers of the world. They deserve their own blog entry instead of just a few paragraphs at the end of one, so I won’t go into detail here. For now, I offer a heartfelt thank you to everyone who has kept us in your prayers, supported us, worked to make fundraisers happen, and who have offered us their love both near and from afar. Thank you!